Clinical Report: Differences in α1-Antitrypsin Deficiency Testing and Treatment Among US Adults

Overview

This retrospective cohort study examines α1-antitrypsin deficiency (AATD) testing among US veterans with COPD and/or asthma and augmentation therapy among those diagnosed with AATD. The supplied article text describes the study rationale and design but ends before reporting its results; therefore, testing rates, treatment rates, and associated factors cannot be summarized from the available material.

Background

AATD is an inherited disorder caused by inadequate α1-antitrypsin, with severe Pi*ZZ deficiency estimated to occur in approximately 1 in 2,500 to 5,000 people in the US and Europe. It is associated with obstructive lung disease, liver disease, vasculitis, panniculitis, and bronchiectasis, yet remains underdiagnosed, primarily because testing rates are low. The article states that American Thoracic Society/European Respiratory Society recommendations include testing patients with COPD, unresponsive asthma, cryptogenic liver disease, bronchiectasis, panniculitis, and c-antineutrophil cytoplasmic antibodies vasculitis. The study focuses on veterans, a population described as having substantial COPD and tobacco-use burdens and a comparatively large rural population, factors the article identifies as potentially relevant to access to testing and treatment.

Data Highlights

Key Findings

• The study was designed to assess AATD testing frequency among people receiving VA care with COPD and/or asthma and to examine sociodemographic and geographic factors associated with testing.
• The cohort included patients with COPD, asthma, asthma-COPD overlap, or spirometry-confirmed airflow obstruction, defined as an FEV1/FVC ratio below 0.70.
• Eligibility required at least two encounters documenting COPD and/or asthma between January 2000 and December 2024, using specified ICD-9 or ICD-10 codes.
• Among patients diagnosed with AATD, the study planned to assess augmentation therapy frequency and characteristics associated with receiving a prescription; the supplied text does not provide those results.
• The article reports that severe Pi*ZZ AATD occurs in approximately 1 in 2,500 to 5,000 people in the US and Europe and that only a small proportion of affected individuals are diagnosed.
• The related article summaries describe AATD-associated liver disease as involving AAT accumulation in the liver and identify emphysema as a major structural lung finding in AATD; they provide no results from the VA cohort study.

Clinical Implications

The supplied article cites ATS/ERS recommendations to test patients with COPD and specified other AATD-associated conditions, including unresponsive asthma and bronchiectasis. Because the study's outcome data are absent from the supplied text, no conclusions about actual VA testing or augmentation therapy rates, or about factors associated with either, can be drawn here.

Conclusion

The article describes a national VA retrospective cohort study intended to characterize AATD testing and augmentation therapy in adults with COPD and/or asthma. Its findings are not present in the supplied material, limiting conclusions about observed testing and treatment patterns.

Related Resources & Content

1. Journal of Gastroenterology, 2019 -- Liver Disorders in Adults with Severe Deficiency of Alpha-1-Antitrypsin
2. MDSpire News -- Pinpointing the Link Between Alpha 1 Antitrypsin Deficiency and Cardiovascular Disease
3. European Radiology, 2025 -- CT Imaging of Emphysema, Airway Wall Thickness, and Mucus Obstruction in Alpha-1-Antitrypsin Deficiency: Correlation with Clinical Outcomes
4. Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency
5. Spanish Clinical Practice Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency: 2026 Update
6. RAPID trial, 2015 -- Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency
7. ASCO Publications — Comparing rate of immunotherapy treatment change due to toxicity by gender.
8. Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency
9. Spanish Clinical Practice Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency: 2026 Update
10. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID)